Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants
Souhrid Mukherjee, Thomas A. Cassini, Ningning Hu, Tao Yang, Bian Li, Wangzhen Shen, Christopher W. Moth, David C. Rinker, Jonathan H. Sheehan, Joy D. Cogan, Undiagnosed Diseases Network, John H. Newman, Rizwan Hamid, Robert L. Macdonald, Dan M. Roden, , John A. Capra
The paper uses personalized structural biology to analyze de novo KCNC2 variants in a DEE patient, revealing distinct functional effects of two nearby variants.
Human Genetics and Genomics Advances · Jul 18, 2022Peer-reviewedGenetic & Genomic Medicine